HYAL1 V251Ffs*20 [lysosomal lumen]

Stable Identifier
R-HSA-2318714
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
lysosomal lumen
Synonyms
HYAL1, Hyaluronidase-1, HYAL1_HUMAN, c.1361del37ins14/p.E268K HYAL1
Icon
HYAL1 V251Ffs*20 [lysosomal lumen] icon
HYAL1 V251Ffs*20 [lysosomal lumen] icon
Locations in the PathwayBrowser
Expand all
Literature References
PubMed ID Title Journal Year
10339581 Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX

Salo, TJ, Natowicz, MR, Triggs-Raine, B, Wicklow, BA, Zhang, H

Proc. Natl. Acad. Sci. U.S.A. 1999
External Reference Information
External Reference
UniProt:Q12794 HYAL1
Gene Names
HYAL1, LUCA1
Chain
signal peptide:1-21, chain:22-435
Reference Genes
BioGPS Gene:3373 HYAL1
COSMIC (genes):HYAL1 HYAL1
CTD Gene:3373 HYAL1
dbSNP Gene:3373 HYAL1
ENSEMBL:ENSG00000114378 HYAL1
HGNC:5320 HYAL1
KEGG:hsa:3373 HYAL1
Monarch:3373 HYAL1
NCBI Gene:3373 HYAL1
OMIM:607071 HYAL1
UCSC:Q12794 HYAL1
Reference Transcript
Other Identifiers
11740989_a_at
11740990_x_at
11751860_a_at
11751861_x_at
11753209_a_at
11753210_x_at
11755620_a_at
1546_at
16954401
210619_PM_s_at
210619_s_at
2675141
2675147
2675149
2675151
2675152
2675153
2675155
2675156
2675157
2675158
2675159
2675160
2675161
2675162
2675163
2675164
2675165
2675166
3373
37176_at
3809823
8087611
A_23_P69329
A_24_P208774
GE58858
GO:0000302
GO:0003824
GO:0004415
GO:0005576
GO:0005615
GO:0005737
GO:0005764
GO:0005773
GO:0005975
GO:0006027
GO:0006790
GO:0006954
GO:0009615
GO:0010634
GO:0016740
GO:0016787
GO:0016798
GO:0030207
GO:0030212
GO:0030213
GO:0030214
GO:0030307
GO:0030308
GO:0031410
GO:0036117
GO:0036120
GO:0043202
GO:0043226
GO:0044344
GO:0045766
GO:0045785
GO:0045927
GO:0046677
GO:0048856
GO:0050501
GO:0050679
GO:0051216
GO:0052757
GO:0060272
GO:0070062
GO:0071347
GO:0071356
GO:0071467
GO:0071493
GO:1900087
GO:1900106
GO:1901135
HMNXSV003049316
ILMN_1693230
ILMN_1712620
ILMN_1739813
ILMN_2314417
PH_hs_0004350
TC03001427.hg
U03056_at
g5825510_3p_a_at
Participates
as a member of
Other forms of this molecule
HYAL1 E268K [lysosomal lumen]
HYAL1 [lysosomal lumen]
Modified Residues
Name
Replacement of residues 251 to 269 by FRVARIPCGRGIPCGCGCW
Disease
Name Identifier Synonyms
mucopolysaccharidosis DOID:12798 Mucopolysaccharidosis, Mucopolysaccharidoses, Mucopolysaccharidosis (disorder), Mucopolysaccharidosis, Mucopolysaccharidosis NOS (disorder), mucopolysaccharidosis, Mucopolysaccharidosis [Ambiguous]
Cross References
ClinGen
ENSEMBL
OpenTargets
HPA
PRO
Pharos - Targets
GlyGen
Orphanet
HMDB Protein
PDB
Cite Us!